Canonical Allele Identifier: CA2203673442
Gene: NAGPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.5027628A= , CM000678.2:g.5027628A= GRCh38
NC_000016.9:g.5077629A= , CM000678.1:g.5077629A= GRCh37
NC_000016.8:g.5017630A= NCBI36
NG_028152.1:g.11314T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312251.8:c.1174+218T= MANE Select ENSP00000310998.3:n.1174+218T=
ENST00000649828.1:c.*346+218T= ENSP00000498032.1:n.*346+218T=
ENST00000312251.7:c.1174+218T= ENSP00000310998.3:n.1174+218T=
ENST00000381955.7:c.1174+218T= ENSP00000371381.3:n.1174+218T=
ENST00000562746.5:c.*346+218T= ENSP00000455900.1:n.*346+218T=
ENST00000563578.5:c.738+1252T=
ENST00000564397.5:n.2227+218T=
ENST00000565876.5:c.481-249T=
ENST00000566137.5:n.472+218T=
ENST00000567739.5:n.493+218T=
ENST00000568202.5:n.1037+218T=
ENST00000569296.5:c.787+218T= ENSP00000465949.1:n.787+218T=
NM_016256.3:c.1174+218T= NP_057340.2:n.1174+218T=
XM_011522517.1:c.1174+218T= XP_011520819.1:n.1174+218T=
XR_243285.1:n.1270+218T=
XM_011522517.3:c.1174+218T= XP_011520819.1:n.1174+218T=
XR_001751908.2:n.1269+218T=
XR_001751909.2:n.1273+218T=
XR_001751910.2:n.1302+218T=
XR_001751911.2:n.1302+218T=
XR_001751912.2:n.1306+218T=
NM_016256.4:c.1174+218T= MANE Select NP_057340.2:n.1174+218T=